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Hereditary motor and sensory neuropathy with optic atrophy (disorder)

Known as: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI, CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A, HMSN6A 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal dominant inheritanceColor vision defectLumbar hyperlordosisOptic Atrophy

Broader (2)

Hereditary Motor and Sensory NeuropathiesPeripheral Neuropathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy
Charcot-Marie-Tooth disease type 2A (CMT2A) is one of the subdivisions of CMT2, an axonal defective form of peripheral neuropathy… 
Review
2004
Review
2004
Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature
SummaryFifteen cases of mitochondrial myopathy, three cases of hereditary motor and sensory neuropathy (HMSN) VI, and 280 cases… 
2004
2004
Fine structural evaluation of altered Schmidt-Lanterman incisures in human sural nerve biopsies
SummaryFine structural alterations of Schmidt-Lanterman incisures (SLI) were investigated in a series of 242 unselected sural… 
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